タナベ ケンジ
田邊 賢司 所属 研究施設 研究施設 職種 准教授 |
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論文種別 | 総説 |
言語種別 | 英語 |
査読の有無 | 査読あり |
表題 | Dynamin 2 in charcot-marie-tooth disease. |
掲載誌名 | 正式名:Acta medica Okayama |
巻・号・頁 | 66,pp.183-190 |
著者・共著者 | Tanabe K. and Takei K. |
担当区分 | 筆頭著者 |
発行年月 | 2012 |
概要 | Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is required for interaction with phosphoinositides, was mutated in several families. Interestingly, the expression of a deletion mutant, 551Δ3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551Δ3 lacks this function. We propose a model for the regulation of the dynamic instability of microtubules by dynamin 2 and discuss the relationship between dynamin 2 and CMT. |